GAPO Syndrome(Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Developmental / Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Developmental / Multisystemic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ANTXR1/84168 | ANTXR cell adhesion molecule 1 | 2p13.3 | Chr2, NC_000002.12 (69013144..69249327) |
236184 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |